BackBrowsing by Author "Sáenz Peña, Amets"
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Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations
Lasa Elgarresta, Jaione; Mosqueira Martín, Laura; Naldaiz Gastesi, Neia; Sáenz Peña, Amets; López de Munain Arregui, Adolfo José; Vallejo Illarramendi, Ainara
(MDPI, 2019-09-02)
Limb-girdle muscular dystrophy recessive 1 (LGMDR1), previously known as LGMD2A, is a rare disease caused by mutations in the CAPN3 gene. It is characterized by progressive weakness of shoulder, pelvic, and proximal limb ... -
Gene Expression Profiling in Limb-Girdle Muscular Dystrophy 2A
; ; ; ; ; Inza Cano, Iñaki; ; ; ; ; ; ; ; ; (Public Library of Science, 2008-11-18)
Limb-girdle muscular dystrophy type 2A (LGMD2A) is a recessive genetic disorder caused by mutations in calpain 3 (CAPN3). Calpain 3 plays different roles in muscular cells, but little is known about its functions or in ... -
GSK-3βren inhibizio bidezko TDP-43aren lokalizazioaren eta kopuruaren azterketa C2C12 zeluletan, muskulu distrofietan izan dezakeen eragina finkatzeko
(2020-12-23)[EUS] Lan honen bidez lortu nahi den helburu nagusia LiCl bidezko tratamenduak TDP-43 proteinaren kontzentrazioa zein lokalizazio zelularra aldatzen duen finkatzea da. Halaber, ikerketa honen bidez lortu nahi diren gainerako ... -
Senescence plays a role in myotonic dystrophy type 1 br
(American Society for Clinical Investigation, 2022-10)Myotonic dystrophy type 1 (DM1; MIM #160900) is an autosomal dominant disorder, clinically characterized by progressive muscular weakness and multisystem degeneration. The broad phenotypes observed in patients with DM1 ...